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Abstract #2555

Natural abundance 13C MRS based glycogen detection in Pompe disease: Test/retest characterization in a Gaa KO mouse model

Deanne Lister1, Prodromos Parasoglou2, Andrew Baik2, Katherine Cygnar2, Aris Economides2, Brendan Cook1, Sven Macholl1, and Patrick McConville1
1Molecular Imaging Center, Invicro, A Konica Minolta Company, La Jolla, CA, United States, 2Regeneron Pharmaceuticals, Tarrytown, NY, United States

Pompe disease is a debilitating condition that results in abnormally high tissue glycogen concentrations and is the subject of significant therapeutic focus by the pharma industry, including promising gene therapies. Non-invasive biomarkers that are specific and sensitive are sought after to address major gaps in early phase clinical trials. We characterized 13C MRS measurements of muscle glycogen concentration as potential biomarkers in Pompe disease, including test/re-test measurements and correlation with tissue biochemical measurements. Strong specificity and reasonable reproducibility was found, suggesting potential for 13C MRS to be used in Pompe disease patients.

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